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MCID: SPH010
MIFTS: 47

Sphingolipidosis

Categories: Genetic diseases, Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Sphingolipidosis

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MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 74 52 58 36 15
Sphingolipidoses 12 52 54 43 71

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1927
KEGG 36 H00423
MeSH 43 D013106
NCIt 49 C117254
SNOMED-CT 67 58459009
ICD10 32 E75.3
MESH via Orphanet 44 D013106
ICD10 via Orphanet 33 E75.0 E75.1 E75.2 more
UMLS via Orphanet 72 C0037899
Orphanet 58 ORPHA79225
UMLS 71 C0037899
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Summaries for Sphingolipidosis

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KEGG : 36 The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and fabry disease. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Glycerol and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

Wikipedia : 74 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main... more...

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Related Diseases for Sphingolipidosis

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Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 33.8 UGCG PSAP GBA2 GBA CHIT1 ARSA
2 fabry disease 33.5 UGCG PSAP GLA GBA CHIT1 ARSA
3 metachromatic leukodystrophy 32.7 SMPD1 PSAP HEXA GM2A GLA GALC
4 tay-sachs disease 32.0 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
5 niemann-pick disease, type c1 32.0 SMPD1 PSAP NPC2 NPC1 HEXA ASAH2
6 farber lipogranulomatosis 31.6 SMPD1 PSAP NPC2 NPC1 GM2A GALC
7 gaucher disease, type i 31.4 UGCG SMPD1 PSAP HEXA GLA GBA2
8 acid sphingomyelinase deficiency 31.4 SMPD1 NPC1
9 niemann-pick disease 31.3 UGCG SMPD1 PSAP NPC2 NPC1 GBA
10 gaucher disease, type ii 31.1 PSAP GBA CHIT1
11 inherited metabolic disorder 31.0 SMPD1 NPC2 NPC1 GLA GBA CHIT1
12 niemann-pick disease, type b 31.0 SMPD1 NPC2 NPC1 CHIT1
13 niemann-pick disease type c, juvenile neurologic onset 30.9 NPC2 NPC1
14 niemann-pick disease type c, adult neurologic onset 30.9 NPC2 NPC1
15 niemann-pick disease type c, severe early infantile neurologic onset 30.9 NPC2 NPC1
16 niemann-pick disease type c, late infantile neurologic onset 30.9 NPC2 NPC1
17 infantile krabbe disease 30.9 PSAP GALC
18 niemann-pick disease type c, severe perinatal form 30.9 NPC2 NPC1
19 cerebral lipidosis 30.9 SMPD1 GLB1 CHIT1
20 metachromatic leukodystrophy, juvenile form 30.9 PSAP ARSA
21 metachromatic leukodystrophy, late infantile form 30.9 PSAP ARSA
22 niemann-pick disease, type a 30.8 SMPD1 PSAP NPC2 NPC1 CHIT1 ASAH2
23 niemann-pick disease, type c2 30.8 SMPD1 NPC2 NPC1
24 gangliosidosis 30.8 UGCG PSAP HEXB HEXA GM2A GLB1
25 gaucher disease, perinatal lethal 30.8 PSAP NPC1 GLA GBA GALC CHIT1
26 metachromatic leukodystrophy, adult form 30.8 PSAP ARSA
27 mucopolysaccharidosis-plus syndrome 30.7 HEXB HEXA GLB1 GLA GALC ARSA
28 gm1-gangliosidosis, type i 30.7 PSAP HEXA GLB1 GLA ARSA
29 galactosialidosis 30.7 GLB1 CTSA
30 gaucher disease, type iii 30.6 PSAP GBA
31 aceruloplasminemia 30.6 NPC2 NPC1 GM2A GBA2
32 gm1 gangliosidosis 30.5 UGCG PSAP NPC2 NPC1 HEXA GM2A
33 krabbe disease 30.4 SMPD1 PSAP GLA GBA GALC CTSA
34 angiokeratoma 30.3 GLA CTSA
35 sandhoff disease 30.2 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
36 lipid storage disease 30.1 UGCG SMPD1 PSAP NPC2 NPC1 HEXA
37 gm2 gangliosidosis 29.9 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
38 lysosomal storage disease 29.9 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
39 sphingolipidosis with epilepsy 12.2
40 combined saposin deficiency 11.7
41 multiple sulfatase deficiency 11.5
42 sea-blue histiocyte disease 11.2
43 lysosomal disease 10.6 GBA GALC
44 neuraminidase deficiency 10.6 PSAP GLB1 CTSA
45 chitotriosidase deficiency 10.6 GBA CHIT1
46 inclusion-cell disease 10.6 PSAP GM2A ARSA
47 glycoproteinosis 10.6 PSAP GLB1 CTSA
48 mucopolysaccharidosis, type vi 10.5 GLB1 GLA GALC ARSA
49 gm1-gangliosidosis, type ii 10.5 HEXB GM2A GLB1
50 gm1-gangliosidosis, type iii 10.5 HEXB GLB1 CTSA

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis
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Symptoms & Phenotypes for Sphingolipidosis

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GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.27 GBA2
2 Decreased viability GR00381-A-1 10.27 CHIT1 GBA2 GLA SMPD1 UGCG
3 Decreased viability GR00402-S-2 10.27 ADPRH ARSA ASAH2 BECN1 CHIT1 CTSA
4 no effect GR00402-S-1 9.96 ADPRH ARSA ASAH2 BECN1 CHIT1 CTSA
5 shRNA abundance <= 50% GR00343-S 9.32 ADPRH ARSA ASAH2 BECN1 CTSA GM2A

MGI Mouse Phenotypes related to Sphingolipidosis:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 ARSA BECN1 CTSA GALC GBA GLA
2 homeostasis/metabolism MP:0005376 10.36 ARSA ASAH2 BECN1 CTSA GALC GBA
3 cellular MP:0005384 10.34 BECN1 CTSA GALC GBA GBA2 GLA
4 growth/size/body region MP:0005378 10.32 BECN1 CTSA GALC GBA GLA GLB1
5 immune system MP:0005387 10.25 ADPRH ARSA BECN1 CHIT1 CTSA GALC
6 hematopoietic system MP:0005397 10.2 ARSA BECN1 CTSA GALC GBA GLB1
7 mortality/aging MP:0010768 10.17 BECN1 CTSA GALC GBA GLA GLB1
8 liver/biliary system MP:0005370 10.15 BECN1 CTSA GALC GBA GLA GLB1
9 nervous system MP:0003631 10.1 ARSA BECN1 GALC GBA GLA GLB1
10 renal/urinary system MP:0005367 9.85 BECN1 CTSA GALC GLA GLB1 HEXA
11 reproductive system MP:0005389 9.61 BECN1 CTSA GBA2 GLB1 HEXA HEXB
12 respiratory system MP:0005388 9.23 BECN1 CTSA GBA NPC1 NPC2 PSAP
Sources

Drugs & Therapeutics for Sphingolipidosis

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Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
2
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
3
Calcium carbonate Approved, Investigational Phase 2 471-34-1
4
tannic acid Approved Phase 2 1401-55-4
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7
Mesna Approved, Investigational Phase 2 3375-50-6 598
8
Mycophenolic acid Approved Phase 2 24280-93-1 446541
9
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
19
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
21 Tocotrienol Investigational Phase 2 6829-55-6
22 Trace Elements Phase 2
23 Micronutrients Phase 2
24 Anti-Ulcer Agents Phase 2
25 Calcium, Dietary Phase 2
26 Calciferol Phase 2
27 Antacids Phase 2
28 Hormones Phase 2
29 Nutrients Phase 2
30 Anti-Bacterial Agents Phase 2
31 Anti-Infective Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Antitubercular Agents Phase 2
34 Dermatologic Agents Phase 2
35 Cyclosporins Phase 2
36 Antifungal Agents Phase 2
37 Calcineurin Inhibitors Phase 2
38 Vitamins Phase 2
39 N-monoacetylcystine Phase 2
40 Tocopherols Phase 2
41 Alpha-lipoic Acid Phase 2
42 Tocotrienols Phase 2
43 Antilymphocyte Serum Phase 2
44 Antimetabolites Phase 2
45 Thioctic Acid Phase 2
46 Immunologic Factors Phase 2
47 Immunosuppressive Agents Phase 2
48 Alkylating Agents Phase 2
49 Antineoplastic Agents, Immunological Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
2 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
3 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
4 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
7 Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease Completed NCT00004294 Phase 1
8 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
9 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
10 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
11 A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease Completed NCT00351156
12 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
13 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
14 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
15 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
16 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
17 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Active, not recruiting NCT03233841
18 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650
19 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

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Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

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MalaCards organs/tissues related to Sphingolipidosis:

40
Skin, Bone, Brain, Spinal Cord, T Cells, Testes, Bone Marrow
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Publications for Sphingolipidosis

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Articles related to Sphingolipidosis:

(show top 50) (show all 325)
# Title Authors PMID Year
1
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases. 54 61
19857976 2010
2
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. 54 61
15937950 2005
3
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 54 61
15146461 2004
4
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. 54 61
11934514 2002
5
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 54 61
11309366 2001
6
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 54 61
10679038 2000
7
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. 54 61
10491988 1999
8
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. 54 61
9225972 1997
9
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 54 61
9240741 1996
10
Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. 54 61
8101401 1993
11
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region. 54 61
1776640 1991
12
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
13
β-Galactosylceramidase Deficiency Causes Bone Marrow Vascular Defects in an Animal Model of Krabbe Disease. 61
31905906 2019
14
Emerging mechanisms of drug-induced phospholipidosis. 61
31408430 2019
15
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. 61
31091195 2019
16
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency. 61
31576605 2019
17
Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy. 61
31771289 2019
18
DEGS1 variant causes neurological disorder. 61
31186544 2019
19
Isolation and Quantification of Sphingosine and Sphinganine from Rat Serum Revealed Gender Differences. 61
31500283 2019
20
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. 61
31140649 2019
21
Ceramide synthase inhibition by fumonisins: a perfect storm of perturbed sphingolipid metabolism, signaling, and disease. 61
31048407 2019
22
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 61
30517686 2019
23
Inhibition of the IGF-1-PI3K-Akt-mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis. 61
31036560 2019
24
Fabry disease in cardiology practice: Literature review and expert point of view. 61
30826269 2019
25
ROS Scavenger, Ebselen, Has No Preventive Effect in New Hearing Loss Model Using a Cholesterol-Chelating Agent. 61
30727719 2019
26
Sphingolipids and neuronal degeneration in lysosomal storage disorders. 61
29959861 2019
27
Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development. 61
30781349 2019
28
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. 61
31150494 2019
29
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. 61
30274713 2019
30
Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. 61
30633777 2019
31
Sphingolipids in neurodegeneration (with focus on ceramide and S1P). 61
30287225 2018
32
Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. 61
30261790 2018
33
Niemann-Pick type C disease: The atypical sphingolipidosis. 61
30205942 2018
34
[Gaucher's disease - an overview about a sphingolipidosis]. 61
30468119 2018
35
[The basics of lysosomal storage diseases]. 61
30468118 2018
36
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. 61
30384423 2018
37
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. 61
29556840 2018
38
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 61
29290526 2018
39
Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. 61
29061473 2017
40
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. 61
28847675 2017
41
Recent advances and novel treatments for sphingolipidoses. 61
28857617 2017
42
Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals. 61
28373486 2017
43
Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases. 61
28389479 2017
44
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. 61
27533120 2017
45
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. 61
26990139 2017
46
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards. 61
28089753 2017
47
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 61
28165343 2017
48
Lipid glycosylation: a primer for histochemists and cell biologists. 61
27999995 2017
49
[Fabry disease]. 61
28104284 2017
50
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. 61
28168127 2017
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Variations for Sphingolipidosis

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Expression for Sphingolipidosis

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Search GEO for disease gene expression data for Sphingolipidosis.
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Pathways for Sphingolipidosis

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Pathways related to Sphingolipidosis according to KEGG:

36
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.84 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
2
Sphingolipid metabolism 65 36 1
Show member pathways
 11.87 UGCG SMPD1 PSAP HEXB HEXA GM2A
3
Lysosome 36
11.86 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
4
Keratan sulfate/keratin metabolism 65
Show member pathways
 11.58 HEXB HEXA GLB1
5
Amino sugar and nucleotide sugar metabolism 36
Show member pathways
 11.5 HEXB HEXA CHIT1
6
Globo Sphingolipid Metabolism 1
Show member pathways
 11.15 HEXB HEXA GLA
7
Glycosphingolipid biosynthesis - ganglio series 36
Show member pathways
 10.99 HEXB HEXA GLB1
8
Other glycan degradation 36
10.81 HEXB HEXA GLB1 GBA2 GBA
9
Glycosaminoglycan degradation 36
Show member pathways
 10.8 HEXB HEXA GLB1
10
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 22
Show member pathways
 10.62 NPC2 NPC1
Sources

GO Terms for Sphingolipidosis

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Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.1 SMPD1 PSAP NPC2 NPC1 HEXB GM2A
2 extracellular exosome GO:0070062 10.1 SMPD1 RAB8A PSAP NPC2 NPC1 HEXB
3 extracellular space GO:0005615 10.06 SMPD1 PSAP NPC2 HEXB GLB1 GBA
4 endoplasmic reticulum GO:0005783 10.02 NPC2 NPC1 GBA2 GBA CTSA BECN1
5 Golgi apparatus GO:0005794 10.02 UGCG RAB8A NPC1 GLB1 GLA GBA2
6 endosome GO:0005768 9.91 SMPD1 RAB8A NPC1 BECN1 ARSA
7 lysosomal membrane GO:0005765 9.8 PSAP NPC1 GBA CTSA
8 lysosomal lumen GO:0043202 9.73 SMPD1 PSAP NPC2 HEXB HEXA GM2A
9 azurophil granule lumen GO:0035578 9.7 NPC2 HEXB GM2A GLB1 GLA CTSA
10 extrinsic component of membrane GO:0019898 9.61 GBA2 GBA BECN1
11 lysosome GO:0005764 9.47 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
12 azurophil granule GO:0042582 9.46 HEXB HEXA

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 UGCG PSAP NPC2 NPC1 GM2A GBA2
2 neutrophil degranulation GO:0043312 9.91 PSAP NPC2 HEXB GM2A GLB1 GLA
3 lipid transport GO:0006869 9.85 PSAP NPC2 NPC1 GM2A
4 carbohydrate metabolic process GO:0005975 9.85 HEXB HEXA GLB1 GLA CHIT1
5 steroid metabolic process GO:0008202 9.84 NPC2 NPC1 GBA2 GBA
6 autophagy GO:0006914 9.83 RAB8A NPC1 GBA BECN1 ARSA
7 metabolic process GO:0008152 9.81 SMPD1 HEXB HEXA GLB1 GLA GBA2
8 myelination GO:0042552 9.78 PSAP HEXB GALC
9 cholesterol metabolic process GO:0008203 9.77 SMPD1 NPC2 NPC1 GBA2 GBA
10 neuromuscular process controlling balance GO:0050885 9.76 PSAP HEXB GM2A
11 lysosome organization GO:0007040 9.73 HEXB GBA BECN1
12 low-density lipoprotein particle clearance GO:0034383 9.67 NPC2 NPC1
13 cholesterol transport GO:0030301 9.67 NPC2 NPC1
14 cholesterol efflux GO:0033344 9.66 NPC2 NPC1
15 lipid storage GO:0019915 9.66 HEXB GM2A
16 ceramide metabolic process GO:0006672 9.65 SMPD1 ASAH2
17 lysosomal transport GO:0007041 9.65 PSAP NPC1
18 hyaluronan catabolic process GO:0030214 9.65 HEXB HEXA
19 ceramide biosynthetic process GO:0046513 9.65 SMPD1 GBA ASAH2
20 chondroitin sulfate catabolic process GO:0030207 9.64 HEXB HEXA
21 sphingosine biosynthetic process GO:0046512 9.64 GBA ASAH2
22 lipid glycosylation GO:0030259 9.63 GBA2 GBA
23 response to pH GO:0009268 9.63 GBA ARSA
24 bile acid metabolic process GO:0008206 9.62 NPC1 GBA2
25 intracellular cholesterol transport GO:0032367 9.62 NPC2 NPC1
26 oligosaccharide catabolic process GO:0009313 9.61 HEXB GM2A
27 glycoside catabolic process GO:0016139 9.6 GLA GBA2
28 ganglioside catabolic process GO:0006689 9.59 HEXB GM2A
29 positive regulation of hydrolase activity GO:0051345 9.58 PSAP GM2A
30 keratan sulfate catabolic process GO:0042340 9.58 HEXB HEXA GLB1
31 cornified envelope assembly GO:1903575 9.57 UGCG PSAP
32 termination of signal transduction GO:0023021 9.52 SMPD1 GBA
33 galactosylceramide catabolic process GO:0006683 9.51 PSAP GALC
34 sphingolipid metabolic process GO:0006665 9.5 UGCG PSAP GM2A GBA2 GBA GALC
35 glucosylceramide catabolic process GO:0006680 9.49 GBA2 GBA
36 glycosphingolipid metabolic process GO:0006687 9.44 UGCG SMPD1 PSAP HEXB HEXA GM2A

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 SMPD1 HEXB HEXA GM2A GLB1 GLA
2 enzyme activator activity GO:0008047 9.61 PSAP GM2A CTSA
3 galactoside binding GO:0016936 9.49 GLB1 GLA
4 glucosyltransferase activity GO:0046527 9.48 GBA2 GBA
5 beta-galactosidase activity GO:0004565 9.46 PSAP GLB1
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.46 HEXB GLA GBA2 CHIT1
7 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXB HEXA GM2A
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.4 HEXB HEXA
9 glucosylceramidase activity GO:0004348 9.37 GBA2 GBA
10 steryl-beta-glucosidase activity GO:0050295 9.32 GBA2 GBA
11 hydrolase activity, acting on glycosyl bonds GO:0016798 9.28 SMPD1 HEXB HEXA GLB1 GLA GBA2
Sources

Sources for Sphingolipidosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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